The association of congenital ptosis and congenital heart disease
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Congenital ptosis patients have a higher risk of congenital heart disease. This study found a fivefold increased rate, suggesting routine cardiac screening for these children.
Area of Science:
- Ophthalmology
- Pediatrics
- Cardiology
Background:
- Congenital ptosis and congenital heart disease (CHD) are occasionally observed together in specific genetic syndromes.
- This study investigates the association between isolated congenital ptosis and CHD outside of known syndromic contexts.
Observation:
- Seven cases of structural congenital heart defects were identified in 156 consecutive patients undergoing surgery for congenital ptosis.
- These patients were carefully evaluated to exclude underlying dysmorphic syndromes.
Findings:
- The prevalence of CHD among patients with isolated congenital ptosis was significantly higher than expected.
- The observed rate of CHD was approximately five times the expected rate in the general pediatric population.
Implications:
- Ophthalmologists should consider the possibility of coexisting structural heart defects in all pediatric patients with congenital ptosis.
- Early screening for CHD may be warranted in this patient group to facilitate timely intervention.
Abstract:
Congenital ptosis and congenital heart disease are known to occur simultaneously in the presence of several well-recognized clinical syndromes. We report seven cases of documented, structural congenital heart defects found among 156 consecutive congenital ptosis patients operated at the Wills Eye Hospital. The possibility that the concurrence found in the patients was a manifestation of a dysmorphic syndrome was carefully excluded by observers skilled in the recognition of such anomalies. The observed rate of congenital heart disease, in otherwise normal congenital ptosis patients, was five times the expected rate in the pediatric population at large. This should alert ophthalmologists examining pediatric ptosis patients to the possibility of a coexisting structural heart defect.